| 基因名 | 突变 |
|---|---|
| UQCC(NM_018244,ubiquinol-cytochrome c reductase complex chaperone,299aa) | g.20:33971914C>T,c.152G>A,p.R51Q |
| UQCC(NM_018244,ubiquinol-cytochrome c reductase complex chaperone,299aa) | g.20:33971846G>A,c.220C>T,p.R74C |
| UQCC(NM_018244,ubiquinol-cytochrome c reductase complex chaperone,299aa) | g.20:33971842T>A,c.224A>T,p.K75M |
| UQCC(NM_018244,ubiquinol-cytochrome c reductase complex chaperone,299aa) | g.20:33935044G>A,c.496C>T,p.R166W |
| UQCC(NM_018244,ubiquinol-cytochrome c reductase complex chaperone,299aa) | g.20:33902559A>G,c.583T>C,p.Y195H |
| UPRT(NM_145052,uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae),309aa) | g.X:74494207G>A,c.118G>A,p.G40R |
| UPP2(NM_173355,uridine phosphorylase 2,317aa) | g.2:158978085C>T,c.619C>T,p.P207S |
| UPP2(NM_173355,uridine phosphorylase 2,317aa) | g.2:158974403del,c.407del,p.136fs |
| UPP2(NM_173355,uridine phosphorylase 2,317aa) | g.2:158974349T>C,c.353T>C,p.I118T |
| UPP2(NM_173355,uridine phosphorylase 2,317aa) | g.2:158958605G>T,c.30G>T,p.R10S |
| UPP1(NM_181597,uridine phosphorylase 1,310aa) | g.7:48147038G>A,c.727G>A,p.G243S |
| UPP1(NM_181597,uridine phosphorylase 1,310aa) | g.7:48146994C>T,c.683C>T,p.T228M |
| UPP1(NM_181597,uridine phosphorylase 1,310aa) | g.7:48146966C>T,c.655C>T,p.R219C |
| UPP1(NM_181597,uridine phosphorylase 1,310aa) | g.7:48146524A>G,c.491A>G,p.K164R |
| UPP1(NM_181597,uridine phosphorylase 1,310aa) | g.7:48142984C>T,c.412C>T,p.R138C |
| UPP1(NM_181597,uridine phosphorylase 1,310aa) | g.7:48139277G>A,c.55G>A,p.V19I |
| UPP1(NM_181597,uridine phosphorylase 1,310aa) | g.7:48134391C>T,c.11C>T,p.T4M |
| UPP1(NM_181597,uridine phosphorylase 1,310aa) | g.7:48134385C>T,c.5C>T,p.A2V |
| UPP1(NM_181597,uridine phosphorylase 1,310aa) | g.7:48128850G>A,c.-363-1G>A,p.5'UTRAcceptor |
| UPK3B(NM_030570,uroplakin 3B,320aa) | g.7:76144560T>C,c.955T>C,p.W319R |
| UPK3B(NM_030570,uroplakin 3B,320aa) | g.7:76144483A>G,c.878A>G,p.Q293R |
| UPK3B(NM_030570,uroplakin 3B,320aa) | g.7:76144473G>A,c.868G>A,p.G290S |
| UPK3B(NM_030570,uroplakin 3B,320aa) | g.7:76143353C>T,c.716C>T,p.P239L |
| UPK3B(NM_030570,uroplakin 3B,320aa) | g.7:76143306G>C,c.669G>C,p.K223N |
| UPK3B(NM_030570,uroplakin 3B,320aa) | g.7:76141171G>A,c.598G>A,p.A200T |
| UPK3B(NM_030570,uroplakin 3B,320aa) | g.7:76140330G>A,c.361G>A,p.A121T |
| UPK3B(NM_030570,uroplakin 3B,320aa) | g.7:76140315G>A,c.346G>A,p.D116N |
| UPK3B(NM_030570,uroplakin 3B,320aa) | g.7:76140307G>C,c.338G>C,p.C113S |